Stats by Source
Total, split by cell line (COSMIC CL / DepMap / PubMed) vs tissue (COSMIC primary tissue)
Total = all mutations for this gene across every source.
Cell line = COSMIC Cell Lines Project + DepMap + PubMed.
Tissue = COSMIC primary-tissue (patient tumour) samples.
Total can exceed cell line + tissue: COSMIC tissue-derived models sit only in global, and a peptide can be shared across both.
| Total | Cell line | Tissue | |
|---|---|---|---|
| Mutations | 348 | 35 | 308 |
| Samples | 97 | 16 | 79 |
| Peptides | 102 | 11 | 87 |
Function
DERL1 · Derlin 1
The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from the ER lumen to the cytosol for proteasomal degradation. This protein recognizes substrate in the ER and works in a complex to retrotranslocate it across the ER membrane into the cytosol. This protein may select cystic fibrosis transmembrane conductance regulator protein (CFTR) for degradation as well as unfolded proteins in Alzheimer's disease. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Aug 2012].
Isoforms & Proteins
5 transcripts · UniProt mapping is sequence-verified (AA-safe)
Each Ensembl transcript (ENST) this gene is mutated on, with its matched UniProt accession.
The mapping is sequence-verified: the UniProt sequence is identical to the transcript translation, so amino-acid positions line up exactly. A * marks an unreviewed (TrEMBL) entry.
Counts are mutations and unique mutant peptides on each transcript.
Gene Properties
Recurrent Mutations
All 85 amino-acid changes on canonical ENST00000259512 · needle height = samples · drag the mini-map to zoom
A lollipop / needle plot – the standard way to show recurrent mutations along a protein (as used by cBioPortal and MutationMapper).
X-axis = amino-acid position in the protein.
Needle height & head size = how often that exact amino-acid change was observed (its recurrence). Tall/large heads are mutational hotspots.
The most recurrent changes are labelled; hover any needle for the change, position and counts.
Mutation frequency across cancer types
% of samples with a missense/complex mutation in DERL1 · cell line vs tissue
For each cancer type, the fraction of samples that carry at least one missense/complex mutation anywhere in DERL1 – counted as distinct samples (a sample counts once no matter how many mutations it has).
Split into cell line and tissue; each cell shows mutated / total and the percentage. Cohorts with <20 samples are omitted. Ordered by combined frequency.
| Cancer type | Cell lines | Tissue samples |
|---|---|---|
| Acute Myeloid Leukemia | 4/90 4% | 0/0 0% |
| Endometrial Carcinoma | 0/42 0% | 8/612 1% |
| Plasma Cell Myeloma | 1/44 2% | 1/305 0% |
| Neuroendocrine Tumour | 2/154 1% | 2/577 0% |
| Melanoma | 1/210 0% | 9/1899 0% |
| Esophageal Squamous Cell Carcinoma | 2/51 4% | 7/2550 0% |
| Colorectal Carcinoma | 0/143 0% | 12/3239 0% |
| Pancreatic Carcinoma | 0/89 0% | 6/1611 0% |
| Ewings Sarcoma | 0/63 0% | 1/262 0% |
| Other Solid Cancers | 0/94 0% | 5/1515 0% |
| Head and Neck Carcinoma | 0/85 0% | 5/1574 0% |
| Non-Small Cell Lung Carcinoma | 0/304 0% | 4/1390 0% |
| Squamous Cell Lung Carcinoma | 2/57 4% | 0/810 0% |
| Cervical Carcinoma | 0/35 0% | 1/422 0% |
| Prostate Carcinoma | 0/13 0% | 4/2105 0% |
| Breast Carcinoma | 1/144 1% | 4/3264 0% |
| Hepatocellular Carcinoma | 0/46 0% | 3/2210 0% |
| Small Cell Lung Carcinoma | 0/9 0% | 1/752 0% |
| Gastric Carcinoma | 0/74 0% | 2/1809 0% |
| Biliary Tract Carcinoma | 0/54 0% | 1/950 0% |
| Bladder Carcinoma | 0/58 0% | 1/956 0% |
| Ovarian Carcinoma | 1/109 1% | 0/998 0% |
| B-Cell Non-Hodgkins Lymphoma | 0/88 0% | 2/2534 0% |
| Neuroblastoma | 1/87 1% | 0/1331 0% |
| Thyroid Gland Carcinoma | 0/45 0% | 1/1592 0% |
| Glioma | 0/52 0% | 1/2127 0% |
| Kidney Carcinoma | 1/85 1% | 0/1862 0% |
Mutation Distribution
Where DERL1 is mutated · all tissues, split by cell line vs tissue
How many mutations in DERL1 were found in each tissue, across the whole database.
Each bar is a tissue (cell-line and tissue names are merged to the standard tissue), split into cell line and tissue (patient tumour) contributions.
This shows the cancer-context where this gene is recurrently altered.
GTEx Expression
Median TPM across 54 healthy tissues
Median gene expression (TPM) in normal, non-cancer human tissues from the GTEx project.
Useful for judging tumour specificity – a strong neoantigen target ideally comes from a gene with low expression in healthy tissues.
Scroll or drag the mini-axis below the chart to browse all tissues.
Mutations
All 348 mutations in DERL1
Every mutation record for this gene, across all samples and sources.
The Sample column links to the cell line (cell-line samples) or the tissue type (tissue samples).
Use the Type / Source filters, the search box, and column sorting to explore; each CAN-IMMUNE ID opens the full mutation & peptide view.
| ID | Sample | Transcript | AA Change | CDS | Type | Source | Mutant Peptide | Wild-type Peptide |
|---|